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25. Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3. Harada A; Miya F; Utsunomiya H; Kato M; Yamanaka T; Tsunoda T; Kosaki K; Kanemura Y; Yamasaki M Childs Nerv Syst; 2015 Mar; 31(3):465-71. PubMed ID: 25416470 [TBL] [Abstract][Full Text] [Related]
26. Megalencephaly and chromosomal anomaly. Budka H Acta Neuropathol; 1978 Sep; 43(3):263-6. PubMed ID: 696244 [TBL] [Abstract][Full Text] [Related]
27. Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway. Stutterd C; McGillivray G; Stark Z; Messazos B; Cameron F; White S; ; Mirzaa G; Leventer R Eur J Med Genet; 2018 Dec; 61(12):738-740. PubMed ID: 29883676 [TBL] [Abstract][Full Text] [Related]
28. Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. Capo-Chichi JM; Tcherkezian J; Hamdan FF; Décarie JC; Dobrzeniecka S; Patry L; Nadon MA; Mucha BE; Major P; Shevell M; Bencheikh BO; Joober R; Samuels ME; Rouleau GA; Roux PP; Michaud JL J Med Genet; 2013 Nov; 50(11):740-4. PubMed ID: 23687350 [TBL] [Abstract][Full Text] [Related]
29. Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report. Loughan AR; Harrell M; Perna R; Allen A; Suddarth B Appl Neuropsychol Child; 2017; 6(4):369-377. PubMed ID: 27216985 [TBL] [Abstract][Full Text] [Related]
30. A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy. Nguyen LS; Schneider T; Rio M; Moutton S; Siquier-Pernet K; Verny F; Boddaert N; Desguerre I; Munich A; Rosa JL; Cormier-Daire V; Colleaux L Eur J Hum Genet; 2016 Mar; 24(3):455-8. PubMed ID: 26153217 [TBL] [Abstract][Full Text] [Related]
31. Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. Nellist M; Schot R; Hoogeveen-Westerveld M; Neuteboom RF; van der Louw EJ; Lequin MH; Bindels-de Heus K; Sibbles BJ; de Coo R; Brooks A; Mancini GM Mol Genet Metab; 2015 Mar; 114(3):467-73. PubMed ID: 25523067 [TBL] [Abstract][Full Text] [Related]
32. Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. Di Donato N; Jean YY; Maga AM; Krewson BD; Shupp AB; Avrutsky MI; Roy A; Collins S; Olds C; Willert RA; Czaja AM; Johnson R; Stover JA; Gottlieb S; Bartholdi D; Rauch A; Goldstein A; Boyd-Kyle V; Aldinger KA; Mirzaa GM; Nissen A; Brigatti KW; Puffenberger EG; Millen KJ; Strauss KA; Dobyns WB; Troy CM; Jinks RN Am J Hum Genet; 2016 Nov; 99(5):1117-1129. PubMed ID: 27773430 [TBL] [Abstract][Full Text] [Related]
33. Sperm chromatin integrity in a man with macrocephaly syndrome. Habibi M; Sadeghi N; Tavalaee M; Shahverdi A; Ghorban Z; Nasr-Esfahani MH Andrologia; 2021 Aug; 53(7):e14100. PubMed ID: 33961714 [TBL] [Abstract][Full Text] [Related]
34. Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with Pooh RK; Machida M; Imoto I; Arai EN; Ohashi H; Takeda M; Shimokawa O; Fukuta K; Shiozaki A; Saito S; Chiyo H Genes (Basel); 2021 Mar; 12(3):. PubMed ID: 33801456 [TBL] [Abstract][Full Text] [Related]
35. Neurodevelopmental dysfunction among nonreferred children with idiopathic megalencephaly. Sandler AD; Knudsen MW; Brown TT; Christian RM J Pediatr; 1997 Aug; 131(2):320-4. PubMed ID: 9290626 [TBL] [Abstract][Full Text] [Related]
36. Megalencephaly associated with hyaline pan-neuropathy. CROME L Brain; 1953 Jun; 76(2):215-28. PubMed ID: 13081879 [No Abstract] [Full Text] [Related]
37. Is megalencephaly specific to autism? Ghaziuddin M; Zaccagnini J; Tsai L; Elardo S J Intellect Disabil Res; 1999 Aug; 43 ( Pt 4)():279-82. PubMed ID: 10466865 [TBL] [Abstract][Full Text] [Related]
38. MEGALENCEPHALY; A CLINICAL STUDY WITH CHROMOSOMAL ANALYSIS. SALMON JH; FLANIGAN S J Neurosurg; 1964 May; 21():409-12. PubMed ID: 14168210 [No Abstract] [Full Text] [Related]
39. [Clinical and anatomical findings in hemi-megalencephaly; role of cerebral hyperplasia and of local gigantism associated with phacomatosis]. GROSS H; UIBERRAK B Virchows Arch Pathol Anat Physiol Klin Med; 1955; 327(5):577-89. PubMed ID: 13299673 [No Abstract] [Full Text] [Related]